Variant report

Variant	rs8019824
Chromosome Location	chr14:55365331-55365332
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55365292..55366794-chr14:55367173..55368937,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10136972	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10137071	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10140164	0.82[ASN][1000 genomes]
rs10149103	0.85[ASN][1000 genomes]
rs1107960	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11158026	0.81[EUR][1000 genomes]
rs11158028	0.85[ASN][1000 genomes]
rs11621165	0.85[ASN][1000 genomes]
rs11621177	0.85[ASN][1000 genomes]
rs11626396	0.85[ASN][1000 genomes]
rs11846809	0.86[ASN][1000 genomes]
rs11852045	0.83[ASN][1000 genomes]
rs12147796	0.81[ASN][1000 genomes]
rs2149482	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28481699	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3759664	0.81[ASN][1000 genomes]
rs3759665	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783642	0.80[AFR][1000 genomes]
rs56164809	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60258834	0.81[ASN][1000 genomes]
rs61224609	0.83[ASN][1000 genomes]
rs6572993	0.81[AMR][1000 genomes]
rs7146285	0.81[AMR][1000 genomes]
rs7147286	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7152033	0.84[ASN][1000 genomes]
rs73280573	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8006363	0.83[ASN][1000 genomes]
rs8007267	0.85[ASN][1000 genomes]
rs8008858	0.84[ASN][1000 genomes]
rs8012152	0.82[AMR][1000 genomes]
rs8018688	0.81[ASN][1000 genomes]
rs8019390	0.81[ASN][1000 genomes]
rs8022453	0.83[ASN][1000 genomes]
rs8023187	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3358123	chr14:55359251-55378030	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55345400-55368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:55348400-55368200	Weak transcription	Gastric	stomach
3	chr14:55349000-55366400	Weak transcription	Hela-S3	cervix
4	chr14:55349200-55367400	Weak transcription	Fetal Intestine Large	intestine
5	chr14:55349200-55367400	Weak transcription	Thymus	Thymus
6	chr14:55349400-55367800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:55349600-55367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:55349600-55368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:55350000-55366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:55353600-55365800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:55354000-55367200	Weak transcription	Primary T cells from cord blood	blood
12	chr14:55356000-55368000	Weak transcription	Spleen	Spleen
13	chr14:55356400-55365600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:55356400-55368000	Weak transcription	Small Intestine	intestine
15	chr14:55356600-55367800	Weak transcription	K562	blood
16	chr14:55356800-55365400	Weak transcription	Fetal Intestine Small	intestine
17	chr14:55358200-55367400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:55358600-55367200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:55359000-55366600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:55359000-55367400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:55359400-55367400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:55359600-55367000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:55360400-55367200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:55360800-55367400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:55360800-55367800	Weak transcription	HMEC	breast
26	chr14:55362400-55365600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr14:55362400-55367000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:55362400-55367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:55362600-55365400	Weak transcription	GM12878-XiMat	blood
30	chr14:55362600-55366000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:55362600-55367200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:55362600-55367200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:55362600-55367200	Weak transcription	NHEK	skin
34	chr14:55362600-55367400	Weak transcription	NH-A	brain
35	chr14:55362800-55365800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:55362800-55365800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:55362800-55366600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:55362800-55367200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:55362800-55367400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:55362800-55367400	Weak transcription	HUVEC	blood vessel
41	chr14:55362800-55367800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:55362800-55368000	Weak transcription	Lung	lung
43	chr14:55363000-55365600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr14:55363200-55365800	Weak transcription	HepG2	liver
45	chr14:55363200-55367200	Weak transcription	Osteobl	bone
46	chr14:55363400-55367200	Weak transcription	Dnd41	blood
47	chr14:55364200-55366400	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr14:55364800-55365800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:55365000-55366200	Genic enhancers	Liver	Liver
50	chr14:55365000-55367200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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